Canonical Allele Identifier: CA1917772028

Gene: HK1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69382552T= , CM000672.2:g.69382552T=	GRCh38
NC_000010.10:g.71142308T= , CM000672.1:g.71142308T=	GRCh37
NC_000010.9:g.70812314T=	NCBI36
NG_012077.1:g.117553T= , LRG_365:g.117553T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470050.2:c.1331T=	ENSP00000515580.1:p.Leu444=
ENST00000703945.1:c.1247T=	ENSP00000515578.1:p.Leu416=
ENST00000703946.1:c.1265+2457T=	ENSP00000515579.1:n.1265+2457T=
ENST00000703947.1:c.941T=	ENSP00000515581.1:p.Leu314=
ENST00000703948.1:c.*948T=	ENSP00000515582.1:n.*948T=
ENST00000703949.1:c.1331T=	ENSP00000515583.1:p.Leu444=
ENST00000703950.1:c.1331T=	ENSP00000515584.1:p.Leu444=
ENST00000703951.1:c.1265+2457T=	ENSP00000515585.1:n.1265+2457T=
ENST00000703952.1:c.1265+2457T=	ENSP00000515586.1:n.1265+2457T=
ENST00000703953.1:c.*594T=	ENSP00000515587.1:n.*594T=
ENST00000703954.1:c.1211T=	ENSP00000515588.1:p.Leu404=
ENST00000703955.1:n.1881T=
ENST00000298649.8:c.1328T=	ENSP00000298649.3:p.Leu443=
ENST00000359426.7:c.1331T= MANE Select	ENSP00000352398.6:p.Leu444=
ENST00000436817.6:c.1343T=	ENSP00000415949.2:p.Leu448=
ENST00000493591.6:c.*1219T=	ENSP00000494917.1:n.*1219T=
ENST00000643399.2:c.1343T= MANE Plus Clinical	ENSP00000494664.1:p.Leu448=
ENST00000298649.7:c.1328T=	ENSP00000298649.3:p.Leu443=
ENST00000359426.6:c.1331T=	ENSP00000352398.6:p.Leu444=
ENST00000360289.6:c.1295T=	ENSP00000353433.2:p.Leu432=
ENST00000448642.6:c.1343T=	ENSP00000402103.3:p.Leu448=
ENST00000494253.1:n.1557T=
NM_000188.2:c.1331T=	NP_000179.2:p.Leu444=
NM_033496.2:c.1328T=	NP_277031.1:p.Leu443=
NM_033497.2:c.1343T=	NP_277032.1:p.Leu448=
NM_033498.2:c.1343T=	NP_277033.1:p.Leu448=
NM_033500.2:c.1295T= , LRG_365t1:c.1295T=	NP_277035.2:p.Leu432=
XM_005269735.2:c.1460T=	XP_005269792.1:p.Leu487=
XM_005269736.1:c.1343T=	XP_005269793.1:p.Leu448=
XM_005269737.1:c.1247T=	XP_005269794.1:p.Leu416=
XM_011539732.1:c.1295T=	XP_011538034.1:p.Leu432=
XM_011539733.1:c.1289T=	XP_011538035.1:p.Leu430=
XM_011539734.1:c.1286T=	XP_011538036.1:p.Leu429=
NM_001322364.1:c.1343T=	NP_001309293.1:p.Leu448=
NM_001322365.1:c.1436T=	NP_001309294.1:p.Leu479=
NM_001322366.1:c.1247T=	NP_001309295.1:p.Leu416=
NM_001322367.1:c.1235T=	NP_001309296.1:p.Leu412=
NM_001358263.1:c.1343T= MANE Plus Clinical	NP_001345192.1:p.Leu448=
XM_024447969.1:c.1343T=	XP_024303737.1:p.Leu448=
NM_000188.3:c.1331T= MANE Select	NP_000179.2:p.Leu444=
NM_001322364.2:c.1343T=	NP_001309293.1:p.Leu448=
NM_001322365.2:c.1436T=	NP_001309294.1:p.Leu479=
NM_033496.3:c.1328T=	NP_277031.1:p.Leu443=
NM_033497.3:c.1343T=	NP_277032.1:p.Leu448=
NM_033498.3:c.1343T=	NP_277033.1:p.Leu448=